Canonical Allele Identifier: CA2573332047

Gene: ABHD12

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25302216C>G , CM000682.2:g.25302216C>G	GRCh38
NC_000020.10:g.25282852C>G , CM000682.1:g.25282852C>G	GRCh37
NC_000020.9:g.25230852C>G	NCBI36
NG_028119.1:g.93767G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.1157+3G>C MANE Select	ENSP00000341408.5:n.1157+3G>C
ENST00000376542.8:c.1157+3G>C	ENSP00000365725.3:n.1157+3G>C
ENST00000465694.2:c.611+3G>C	ENSP00000459278.2:n.611+3G>C
ENST00000671784.1:c.532+3G>C	ENSP00000500451.1:n.532+3G>C
ENST00000671858.1:c.611+3G>C	ENSP00000500550.1:n.611+3G>C
ENST00000672114.1:c.484-1332G>C	ENSP00000499945.1:n.484-1332G>C
ENST00000672258.1:c.541+3G>C	ENSP00000499868.1:n.541+3G>C
ENST00000672331.1:c.528+3G>C	ENSP00000500286.1:n.528+3G>C
ENST00000672358.1:c.611+3G>C	ENSP00000500062.1:n.611+3G>C
ENST00000672406.1:c.*496+3G>C	ENSP00000500208.1:n.*496+3G>C
ENST00000672566.1:c.686+3G>C	ENSP00000500106.1:n.686+3G>C
ENST00000672596.1:c.611+3G>C	ENSP00000500290.1:n.611+3G>C
ENST00000672871.1:c.404+4617G>C	ENSP00000499949.1:n.404+4617G>C
ENST00000673121.1:c.713+3G>C	ENSP00000499839.1:n.713+3G>C
ENST00000673227.1:c.611+3G>C	ENSP00000500514.1:n.611+3G>C
ENST00000673524.1:c.719+3G>C
ENST00000339157.9:c.1157+3G>C	ENSP00000341408.5:n.1157+3G>C
ENST00000376542.7:c.1157+3G>C	ENSP00000365725.3:n.1157+3G>C
NM_001042472.2:c.1157+3G>C	NP_001035937.1:n.1157+3G>C
NM_015600.4:c.1157+3G>C	NP_056415.1:n.1157+3G>C
XM_005260699.3:c.1030-1332G>C	XP_005260756.1:n.1030-1332G>C
XM_011529214.1:c.1157+3G>C	XP_011527516.1:n.1157+3G>C
XM_011529214.2:c.1157+3G>C	XP_011527516.1:n.1157+3G>C
XM_017027796.1:c.686+3G>C	XP_016883285.1:n.686+3G>C
XR_002958465.1:n.2370+3G>C
XR_002958466.1:n.2490+3G>C
XR_002958467.1:n.2049+3G>C
NM_001042472.3:c.1157+3G>C MANE Select	NP_001035937.1:n.1157+3G>C
NM_015600.5:c.1157+3G>C	NP_056415.1:n.1157+3G>C